Ontology highlight
ABSTRACT:
SUBMITTER: Tong W
PROVIDER: S-EPMC5980106 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Tong Wenjia W Wang Yajian Y Lu Yun Y Ye Tongsheng T Song Conglei C Xu Yuanyuan Y Li Min M Ding Jie J Duan Yuanyuan Y Zhang Le L Gu Weiyue W Zhao Xiaoling X Yang Xiu-An XA Jin Danqun D
Scientific reports 20180326 1
Neurodevelopmental delay accompanied unexplained dyspnea is a highly lethal disease in clinic. This study is to investigate the performance characteristics of trio whole exome sequencing (Trio-WES) in a pediatric setting by presenting our patient cohort and displaying the diagnostic yield. A total of 31 pediatric patients showing neurodevelopmental delay accompanied unexplained dyspnea were admitted to our hospital and referred for molecular genetic testing using Trio-WES. Eight genes namely MMA ...[more]